DISEASES

Disease-gene associations mined from literature

Literature on ABRAXAS1

ABRAXAS1 [ENSP00000369857]

BRCA1-A complex subunit Abraxas 1; Involved in DNA damage response and double-strand break (DSB) repair. Component of the BRCA1-A complex, acting as a central scaffold protein that assembles the various components of the complex and mediates the recruitment of BRCA1. The BRCA1-A complex specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesion sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at DSBs. This complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX. ECO:0000269|PubMed:17643122, ECO:0000269|PubMed:18077395, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:22357538,

Synonyms:  ABRAXAS1,  A0A087WWJ9,  A0A087WXK1,  A0A087WZ78,  D6RAN3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM